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Abstract Details

X-Linked Myotubular Myopathy and Fragile X Syndrome in a Female Patient
Neuromuscular and Clinical Neurophysiology (EMG)
P5 - Poster Session 5 (5:30 PM-6:30 PM)
12-018
To describe a female patient with myotubular myopathy secondary to MTM1 mutation and fragile X syndrome secondary to FMR1 mutation.
Our patient is a 14 year old caucasian female who presented to the neuromuscular clinic for weakness. She had a previous workup that showed a 9 kb deletion on her Xp chromosome which included FMR1, MTM1, and IDS genes at the age of 1 year. When screened for Hunter's syndrome, she was negative. Parents did not want any further workup.  She continued along a stable course with little to no gains in her muscle strength and therefore has myotubular myopathy which has been described in females with weakness. She also had severe cognitive impairment and therefore had fragile X syndrome. She manifested with both of these disease because of X inactivation.
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Although X linked disease are more common in males, female carriers may have a range of manifestations of the disease.
Authors/Disclosures
Dustin J. Paul, DO (Penn State Pediatric Neurology)
PRESENTER 		Dr. Paul has nothing to disclose.
Susan T. Iannaccone, MD, FAAN (Department of Pediatrics) Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AveXis. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AveXis. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catabasis. The institution of Dr. Iannaccone has received research support from AveXis. The institution of Dr. Iannaccone has received research support from Biogen. The institution of Dr. Iannaccone has received research support from Sarepta. The institution of Dr. Iannaccone has received research support from PTC Therapeutics. The institution of Dr. Iannaccone has received research support from FibroGen. The institution of Dr. Iannaccone has received research support from ReveraGen. The institution of Dr. Iannaccone has received research support from MDA. The institution of Dr. Iannaccone has received research support from PPMD. The institution of Dr. Iannaccone has received research support from NIH. Dr. Iannaccone has received personal compensation in the range of $0-$499 for serving as a grant reviewer with NIH.